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European Journal of Human Genetics: EJHG

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https://www.readbyqxmd.com/read/28327576/genotypic-spectrum-and-phenotype-correlations-of-abca4-associated-disease-in-patients-of-south-asian-descent
#1
Winston Lee, Kaspar Schuerch, Jana Zernant, Frederick T Collison, Srilaxmi Bearelly, Gerald A Fishman, Stephen H Tsang, Janet R Sparrow, Rando Allikmets
Variants in the ABCA4 gene are the most common cause of juvenile-onset blindness affecting close to 1 in 10 000 people worldwide. Disease severity varies largely according to genotype, which can be specific to ethnic and racial groups. Here we investigate the spectrum of ABCA4 variation and its phenotypic expression in 38 patients of South Asian descent, notably from India, Pakistan, Bangladesh and Sri Lanka. Sequencing of all exons and flanking intronic sequences of ABCA4 revealed disease-causing variants in all patients: 3 in 2...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#2
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327574/from-older-to-younger-intergenerational-promotion-of-health-behaviours-in-portuguese-families-affected-by-familial-amyloid-polyneuropathy
#3
Carla Roma Oliveira, Alvaro Mendes, Liliana Sousa
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327573/clinical-utility-gene-card-for-fabry-disease-update-2016
#4
Andreas Gal, Michael Beck, Wolfgang Höppner, Dominique P Germain
No abstract text is available yet for this article.
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327572/the-role-of-genetic-counsellors-in-genomic-healthcare-in-the-united-kingdom-a-statement-by-the-association-of-genetic-nurses-and-counsellors
#5
Anna Middleton, Peter Marks, Anita Bruce, Liwsi K Protheroe-Davies, Cath King, Oonagh Claber, Catherine Houghton, Claire Giffney, Rhona Macleod, Claire Dolling, Sue Kenwrick, Diana Scotcher, Georgina Hall, Christine Patch, Laura Boyes
In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they contribute genetic knowledge together with expert understanding of how to communicate genetic information effectively. They can offer education and support to the MDT, while providing management advice for both affected patients and the extended at-risk family members...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327571/insights-from-early-experience-of-a-rare-disease-genomic-medicine-multidisciplinary-team-a-qualitative-study
#6
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew Om Wilkie, Hugh Watkins
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#7
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295041/exome-sequencing-identifies-primary-carnitine-deficiency-in-a-family-with-cardiomyopathy-and-sudden-death
#8
Najim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally-Ann B Clur, Karin Y van Spaendonck-Zwarts, Alex V Postma, Abdelaziz Sefiani, Ilham Ratbi, Connie R Bezzina
Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes of cardiomyopathy in a systematic and unbiased manner. This is particularly important given the large clinical variability among pediatric cardiomyopathy patients and the large number of genes (>100) implicated in the disorder...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295040/personal-utility-in-genomic-testing-a-systematic-literature-review
#9
REVIEW
Jennefer N Kohler, Erin Turbitt, Barbara B Biesecker
Researchers and clinicians refer to outcomes of genomic testing that extend beyond clinical utility as 'personal utility'. No systematic delineation of personal utility exists, making it challenging to appreciate its scope. Identifying empirical elements of personal utility reported in the literature offers an inventory that can be subsequently ranked for its relative value by those who have undergone genomic testing. A systematic review was conducted of the peer-reviewed literature reporting non-health-related outcomes of genomic testing from 1 January 2003 to 5 August 2016...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295039/deciphering-the-mechanism-of-q145h-sftpc-mutation-unmasks-a-splicing-defect-and-explains-the-severity-of-the-phenotype
#10
Céline Delestrain, Stéphanie Simon, Abdel Aissat, Rachel Medina, Xavier Decrouy, Elodie Nattes, Agathe Tarze, Bruno Costes, Pascale Fanen, Ralph Epaud
Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress syndrome in an infant girl. Although this variation is predicted to change glutamine (Q) at position 145 to histidine (H), its position at the last base of exon 4 and the severity of the phenotype suggested that it might also induce a splicing defect...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295038/gonadal-mosaicism-of-a-novel-iqsec2-variant-causing-female-limited-intellectual-disability-and-epilepsy
#11
Lisa J Ewans, Michael Field, Ying Zhu, Gillian Turner, Melanie Leffler, Marcel E Dinger, Mark J Cowley, Michael F Buckley, Ingrid E Scheffer, Matilda R Jackson, Tony Roscioli, Cheryl Shoubridge
We report a family with four girls with moderate to severe intellectual disability and epilepsy. Two girls showed regression in adolescence and died of presumed sudden unexpected death in epilepsy at 16 and 22 years. Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_001111125.2: c.2679_2680insA, p.(D894fs*10), a recently identified cause of epileptic encephalopathy in females (MIM 300522). The IQSEC2 variant was identified in both surviving affected sisters but in neither parent...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295037/a-mutation-in-the-tmem65-gene-results-in-mitochondrial-myopathy-with-severe-neurological-manifestations
#12
Aisha Nazli, Adeel Safdar, Ayesha Saleem, Mahmood Akhtar, Lauren I Brady, Jeremy Schwartzentruber, Mark A Tarnopolsky
Recent research has suggested that transmembrane protein 65 (TMEM65) is localized within the inner mitochondrial membrane. Little else is known about its function. In this study we investigated the location and function of TMEM65. Further, we report the functional consequences of a novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene in a patient with mitochondrial encephalomyopathy. Here we investigated the location of TMEM65 by immunofluorescence staining of the protein and by immunoblotting of the isolated mitochondrial fractions in healthy fibroblasts and those from the patient...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295036/a-novel-recessive-ttn-founder-variant-is-a-common-cause-of-distal-myopathy-in-the-serbian-population
#13
Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović, Volker Straub
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272540/ancient-mitochondrial-lineages-support-the-prehistoric-maternal-root-of-basques-in-northern-iberian-peninsula
#14
Leire Palencia-Madrid, Sergio Cardoso, Christine Keyser, Juan Carlos López-Quintana, Amagoia Guenaga-Lizasu, Marian M de Pancorbo
The Basque population inhabits the Franco-Cantabrian region in southwest Europe where Palaeolithic human groups took refuge during the Last Glacial Maximum. Basques have been an isolated population, largely considered as one of the most ancient European populations and it is possible that they maintained some pre-Neolithic genetic characteristics. This work shows the results of mitochondrial DNA analysis of seven ancient human remains from the Cave of Santimamiñe in the Basque Country dated from Mesolithic to the Late Roman period...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272539/choices-for-return-of-primary-and-secondary-genomic-research-results-of-790-members-of-families-with-mendelian-disease
#15
Katie Fiallos, Carolyn Applegate, Debra Jh Mathews, Juli Bollinger, Amanda L Bergner, Cynthia A James
Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272538/partial-duplication-of-the-crybb1-cryba4-locus-is-associated-with-autosomal-dominant-congenital-cataract
#16
Owen M Siggs, Shari Javadiyan, Shiwani Sharma, Emmanuelle Souzeau, Karen M Lower, Deepa A Taranath, Jo Black, John Pater, John G Willoughby, Kathryn P Burdon, Jamie E Craig
Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified by exome sequencing, yet copy number variant analysis revealed a duplication spanning both CRYBB1 and CRYBA4. While the CRYBA4 duplication was complete, the CRYBB1 duplication was not, with the duplicated CRYBB1 product predicted to create a gain of function allele...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272537/mutations-in-the-pcyt1a-gene-are-responsible-for-isolated-forms-of-retinal-dystrophy
#17
Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi
Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A gene in three young patients with isolated retinal dystrophy from two different Italian families...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272536/prediction-of-years-of-life-after-diagnosis-of-breast-cancer-using-omics-and-omic-by-treatment-interactions
#18
Agustín González-Reymúndez, Gustavo de Los Campos, Lucía Gutiérrez, Sophia Y Lunt, Ana I Vazquez
Breast cancer (BC) is the second most common type of cancer and a major cause of death for women. Commonly, BC patients are assigned to risk groups based on the combination of prognostic and prediction factors (eg, patient age, tumor size, tumor grade, hormone receptor status, etc). Although this approach is able to identify risk groups with different prognosis, patients are highly heterogeneous in their response to treatments. To improve the prediction of BC patients, we extended clinical models (including prognostic and prediction factors with whole-omic data) to integrate omics profiles for gene expression and copy number variants (CNVs)...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272535/european-registration-process-for-clinical-laboratory-geneticists-in-genetic-healthcare
#19
Thomas Liehr, Isabel M Carreira, Dilek Aktas, Egbert Bakker, Marta Rodríguez de Alba, Domenico A Coviello, Lina Florentin, Hans Scheffer, Martina Rincic
Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, a unified European-based registration for individuals qualified in biomedicine was realized. Therefore a Europe-wide recognition of the profession 'European registered Clinical Laboratory Geneticist (ErCLG)' based on a syllabus of core competences was established which allows for harmonization in professional education...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272534/genetics-of-the-peloponnesean-populations-and-the-theory-of-extinction-of-the-medieval-peloponnesean-greeks
#20
George Stamatoyannopoulos, Aritra Bose, Athanasios Teodosiadis, Fotis Tsetsos, Anna Plantinga, Nikoletta Psatha, Nikos Zogas, Evangelia Yannaki, Pierre Zalloua, Kenneth K Kidd, Brian L Browning, John Stamatoyannopoulos, Peristera Paschou, Petros Drineas
Peloponnese has been one of the cradles of the Classical European civilization and an important contributor to the ancient European history. It has also been the subject of a controversy about the ancestry of its population. In a theory hotly debated by scholars for over 170 years, the German historian Jacob Philipp Fallmerayer proposed that the medieval Peloponneseans were totally extinguished by Slavic and Avar invaders and replaced by Slavic settlers during the 6th century CE. Here we use 2.5 million single-nucleotide polymorphisms to investigate the genetic structure of Peloponnesean populations in a sample of 241 individuals originating from all districts of the peninsula and to examine predictions of the theory of replacement of the medieval Peloponneseans by Slavs...
March 8, 2017: European Journal of Human Genetics: EJHG
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